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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SAT1 Gene

protein-coding   GIFtS: 64
GCID: GC0XP023807

spermidine/spermine N1-acetyltransferase 1

(Previous name: spermidine/spermine N1-acetyltransferase )
(Previous symbol: SAT)
 Explore 51 diseases affiliated with
SAT1 via our new
 Human Malady Compendium 
Biological research products
for SAT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Spermidine/Spermine N1-Acetyltransferase 11 2     KFSD2 5
SSAT1 2 3 5     KFSDX2 5
SAT1 2 3     Spermidine/Spermine N1-Acetyltransferase1
Polyamine N-Acetyltransferase 12 3     DC212
Putrescine Acetyltransferase2 3     Diamine Acetyltransferase 12
Spermidine/Spermine N(1)-Acetyltransferase 12 3     Diamine N-Acetyltransferase 12
SSAT-12 3     Spermidine/Spermine N1-Acetyltransferase Alpha2
EC 2.3.1.573 8     

External Ids:    HGNC: 105401   Entrez Gene: 63032   Ensembl: ENSG000001300667   OMIM: 3130205   UniProtKB: P216733   
ORGUL members:         
NONCODE:n408024    

Export aliases for SAT1 gene to outside databases

Previous GC identifers: GC0XP023711 GC0XP021540 GC0XP023802


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SAT1:
The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the
catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in
the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene
are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been
found for this gene.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: SAT1_HUMAN, P21673
Function: Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >>
spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the
intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts
on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine,
N(1)-acetylspermidine and N(8)-acetylspermidine

Gene Wiki entry for SAT1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAT1 gene promoter:
         Sp1   HNF-4alpha2   POU3F2   HNF-4alpha1   Max   PPAR-alpha   Nkx6-1   NRF-2   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SAT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.1   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.1

SAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAT1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP023807:  view genomic region     (about GC identifiers)

Start:
23,801,275 bp from pter      End:
23,804,343 bp from pter
Size:
3,069 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SAT1_HUMAN, P21673 (See protein sequence)
Recommended Name: Diamine acetyltransferase 1  
Size: 171 amino acids; 20024 Da
Subunit: Homodimer
Subcellular location: Cytoplasm
6/10 PDB 3D structures from and Proteopedia for SAT1 (see all 10):
2B3U (3D)        2B3V (3D)        2B4B (3D)        2B4D (3D)        2B58 (3D)        2B5G (3D)    

Explore the universe of human proteins at neXtProt for SAT1: NX_P21673

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21673

  • 4/5 DME Specific Peptides for SAT1 (P21673) (see all 5)
     LRLIKELAKYE  FYKRRGASDLS  GIGSEILKNLSQVA  EEGWRLFKIDKEYLLKMA 

    SAT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002961.1  
    ENSEMBL proteins: 
     ENSP00000368572   ENSP00000368555   ENSP00000368553   ENSP00000368556  
    Reactome Protein details: P21673
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SAT1
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    Novus Biologicals SAT1 Proteins
    Novus Biologicals SAT1 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SAT1
    Uscn Proteins for SAT1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--


    SAT1 for ontologies           About GeneDecksing



    SAT1 Antibody Products: 
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    Uscn Antibodies for SAT1
    ThermoFisher Antibodies for SAT1

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    Uscn ELISAs and CLIAs for SAT1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SAT1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000182 GNAT_dom
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry P21673

    ProtoNet protein and cluster: P21673

    1 Blocks protein family: IPB000182 GCN5-related N-acetyltransferase

    UniProtKB/Swiss-Prot: SAT1_HUMAN, P21673
    Similarity: Belongs to the acetyltransferase family
    Similarity: Contains 1 N-acetyltransferase domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SAT1_HUMAN, P21673
    Function: Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >>
    spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the
    intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts
    on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine,
    N(1)-acetylspermidine and N(8)-acetylspermidine
    Catalytic activity: Acetyl-CoA + an alkane-alpha,omega-diamine = CoA + an N-acetyldiamine
    Biophysicochemical properties: Kinetic parameters: KM=3.8 uM for acetyl-coenzyme A; KM=5.7 uM for spermine; KM=22 uM
    for spermidine; pH dependence: Optimum pH is 8.0;

    Enzyme Number (IUBMB): EC 2.3.1.571 2

    miRNA
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    OriGene 3'-UTR Clone: SAT1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAT1
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate SAT1 (see all 14):
    hsa-miR-320a hsa-miR-3673 hsa-miR-320d hsa-let-7a-2* hsa-miR-551b* hsa-miR-320b hsa-miR-199a-5p hsa-miR-466
    SwitchGear 3'UTR luciferase reporter plasmidSAT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAT1 (see all 7)
    OriGene shRNA RFP: SAT1
    OriGene siRNA: SAT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAT1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SAT1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAT1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SAT1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: SAT1 (NM_002970)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAT1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAT1

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004145diamine N-acetyltransferase activity IEA--
    GO:0005515protein binding IPI19060904
    GO:0008080N-acetyltransferase activity ----
    GO:0019809spermidine binding IEA--


    SAT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SAT1:
     Synthetic lethal with imatinib 

    Animal Models:
         Mouse knock-out Sat1tm1Alh for SAT1
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sat1):
     adipose tissue  cellular  growth/size  homeostasis/metabolism  liver/biliary system 
     normal  reproductive system  tumorigenesis 

    SAT1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Monoamines are oxidized to aldehydes by MAOA and MAOB, producing NH3 and H2O2
    putrescine degradation III0.20
    Interconversion of polyamines0.00
    spermine and spermidine degradation I0.00
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    4Nucleotide Metabolism
    Nucleotide Metabolism1.00
    5Arginine and proline metabolism
    Arginine and proline metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 BioSystems Pathways for SAT1 
        Nucleotide Metabolism
    putrescine degradation III
    spermine and spermidine degradation I

    4        Reactome Pathways for SAT1
        Metabolism of polyamines
    Interconversion of polyamines
    Metabolism
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for SAT1):
        Arginine and proline metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SAT1_HUMAN, P21673
    Pathway: Amine and polyamine degradation; putrescine degradation; N-acetylputrescine from putrescine: step 1/1


    SAT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/98 Interacting proteins for SAT1 (P216731, 2, 3 ENSP000003685724) via UniProtKB, MINT, STRING, and/or I2D (see all 98)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    C7orf55-LUC7L2Q9Y3832, 3MINT-63591 I2D: score=5 
    HOXB6P175092, 3, ENSP000002256484MINT-66153 I2D: score=5 STRING: ENSP00000225648
    LNX1Q8TBB12, 3, ENSP000002639254MINT-67522 I2D: score=5 STRING: ENSP00000263925
    LUC7L2Q9Y3832, 3MINT-63591 I2D: score=5 
    TCF25Q9BQ701, 3, ENSP000002633464EBI-711613,EBI-745182 I2D: score=5 STRING: ENSP00000263346
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEP11866539
    GO:0006595polyamine metabolic process TAS--
    GO:0006596polyamine biosynthetic process TAS--
    GO:0009447putrescine catabolic process IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--


    SAT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SAT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SAT1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    N1,N11-Diethylnorspermine tetrahydrochloride Spermine and spermidine acetyltransferase potentiator[121749-39-1]

    9 HMDB Compounds for SAT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    N-AcetylputrescineAcetylputrescine (see all 3)18233-70-0--
    N1-Acetylspermidine1-N-Acetylspermidine (see all 7)14278-49-0--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--
    Spermine1,5,10,14-Tetraazatetradecane (see all 18)71-44-3--

    2 DrugBank Compounds for SAT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Spermine1, 4-Bis(aminopropyl)butanediamine (see all 5)71-44-3enzymesubstrate11166157 11709547 10978316 10986239 11114236 11171097
    N-ethyl-N-[3-(propylamino)propyl]propane-1,3-diamineB33 (see all 2)--target--16455797 10592235

    10/36 Novoseek chemical compound relationships for SAT1 gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    denspm 96.9 98 15138709 (5), 8916930 (4), 12902979 (4), 17987291 (4) (see all 25)
    n(1),n(12)-bis(ethyl)spermine 96.6 47 14592538 (6), 11166157 (4), 8360194 (4), 15905201 (4) (see all 15)
    spermidine 96.3 209 18089555 (4), 7873553 (3), 15799689 (3), 7982492 (3) (see all 99)
    spermine 95.8 229 18089555 (4), 18690703 (3), 8477847 (3), 7982492 (3) (see all 99)
    apao 92.8 5 12653639 (3), 19589128 (1)
    cpenspm 91.9 2 9326648 (1), 8818232 (1)
    thialysine 88.1 6 16194533 (4), 16455797 (1), 18349109 (1)
    n1-acetylspermine 86.8 2 1989509 (1), 15096507 (1)
    putrescine 84.5 27 12215835 (3), 15213272 (2), 12803540 (2), 18571584 (2) (see all 18)
    n1-acetylspermidine 84 6 7873553 (1), 16452302 (1), 15096507 (1), 20212040 (1)

    Search CenterWatch for drugs/clinical trials and news about SAT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SAT1 gene: 
    NM_002970.2  

    Unigene Cluster for SAT1:

    Spermidine/spermine N1-acetyltransferase 1
    Hs.28491  [show with all ESTs]
    Unigene Representative Sequence: BF680536
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379270(uc004dau.3) ENST00000379253(uc010nfv.3) ENST00000379251
    ENST00000379254 ENST00000489394(uc004dav.3) ENST00000463236 ENST00000487713
    ENST00000474223 ENST00000462639

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate SAT1 (see all 14):
    hsa-miR-320a hsa-miR-3673 hsa-miR-320d hsa-let-7a-2* hsa-miR-551b* hsa-miR-320b hsa-miR-199a-5p hsa-miR-466
    SwitchGear 3'UTR luciferase reporter plasmidSAT1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SAT1 (NM_002970)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SAT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAT1

    Additional cDNA sequence: 

    AF251292.1 AK310078.1 AK310094.1 AK312162.1 AK315888.1 BC002503.2 BC008424.1 BT006825.1 
    CR450294.1 M55580.1 M77693.1 NR_027783.1 

    24/49 DOTS entries (see all 49):

    DT.100698362  DT.454407  DT.100698353  DT.91779649  DT.91779637  DT.420346  DT.121291999  DT.100698361 
    DT.100773712  DT.95236826  DT.95302628  DT.91779624  DT.100698364  DT.91779721  DT.95302650  DT.91779724 
    DT.95302547  DT.91779631  DT.121291961  DT.100698355  DT.86840209  DT.95302661  DT.91860457  DT.121291907 

    24/1274 AceView cDNA sequences (see all 1274):

    CB265418 BQ083997 CB265346 BM710606 BU735942 AW103538 AV708919 AI358737 
    AI601249 CR601221 AA011215 CR594832 BM766296 AI270542 BI335926 BG546499 
    CR610144 BM785134 BM844977 AA318127 AI190759 CD743236 AU134115 BM762097 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SAT1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
    SP1:                                      -     -           -     -     -                                       
    SP2:                                      -     -     -     -     -     -                                       
    SP3:                                      -     -     -     -     -     -                                       
    SP4:                                            -     -     -     -     -                                       
    SP5:                                      -     -                                                               


    ECgene alternative splicing isoforms for SAT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGAAATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SAT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAT1

    SOURCE GeneReport for Unigene cluster: Hs.28491
        SABiosciences Expression via Pathway-Focused PCR Arrays including SAT1: 
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SAT1 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SAT11 spermidine/spermine N1-acetyltransferase 1 77.97(n)
    87.13(a)
      374006  NM_204186.1  NP_989517.1 
    lizard
    (Anolis carolinensis)
    Reptilia SAT16
    --
    80(a)
    1 ↔ 1
    3(125678396-125685320)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48802 Xenopus laevis transcribed sequence with moderate similarity more 78.37(n)    CA986298.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufr42a112 wufr42a11 77.47(n)   386952  BM140846.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42106
    --
    28(a)
    1 → many
    3R(11039696-11040567)
    worm
    (Caenorhabditis elegans)
    Secernentea D2023.46
    Protein D2023.4
    25(a)
    1 → many
    V(11825011-11825745)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G390206
    AT2G390306
    acyl-CoA N-acyltransferases-like protein
    19(a)
    18(a)
    many ↔ many
    many ↔ many
    2(16295315-16296328)
    2(16298227-16299202)
    rice
    (Oryza sativa)
    Liliopsida --
    acetyltransferase, GNAT family, putative, expresse...
    19(a)
    1 → many
    3(2842443-2843827)


    ENSEMBL Gene Tree for SAT1 (if available)
    TreeFam Gene Tree for SAT1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAT1 gene
    SAT22  SATL12  
    4 SIMAP similar genes for SAT1 using alignment to 4 protein entries:     SAT1_HUMAN (see all proteins):
    AILE3    SAT    SAT2    SATL1

    SAT1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SAT1
    PGOHUM00000246068


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/126 NCBI SNPs in SAT1 are shown (see all 126    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1899499201,2
    --23799325(+) TTTTTA/TAAATT 2 -- us2k10--------
    rs128326601,2
    C,--23799349(+) acggcA/Gtttta 2 -- us2k10--------
    rs59259341,2
    C,F,A,H,--23799472(+) TCTGCT/CTTTGC 2 -- us2k118Minor allele frequency- C:0.38NS EA NA WA CSA 1973
    rs128388691,2
    C,--23799543(+) CTAGGA/GGGATT 2 -- us2k1 tfbs31Minor allele frequency- G:0.00NA 2
    rs65263421,2
    C,F,A,H,--23799738(+) AGGAGA/CGCTTG 2 -- us2k125Minor allele frequency- N:0.00NS EA NA WA CSA 2397
    rs1828991681,2
    --23799774(+) TTAGAC/TCGCTA 2 -- us2k10--------
    rs1858596501,2
    --23799828(+) AGCCAA/TCTTCT 2 -- us2k10--------
    rs19602641,2
    C,F,H,--23799875(+) TTGGCT/CGGGCA 2 -- us2k16Minor allele frequency- C:0.15NA CSA 13
    rs1910548761,2
    --23799926(+) AGGTGA/GGAGGA 2 -- us2k10--------
    rs9289311,2
    C,F,H,--23799933(+) AGGAGT/CACTTG 2 -- us2k1 tfbs35Minor allele frequency- C:0.18NA CSA 11

    HapMap Linkage Disequilibrium report for SAT1 (23801275 - 23804343 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SAT1: --
    Human Gene Mutation Database (HGMD): SAT1

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SAT1 for disorders           About GeneDecksing

    OMIM gene information: 313020   
    OMIM disorders: 308800  
    UniProtKB/Swiss-Prot: SAT1_HUMAN, P21673
  • Defects in SAT1 may be a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]. A
  • rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and
    extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with
    blepharitis and ectropion, and corneal degeneration

    20/51 diseases for SAT1 (see all 51):    About MalaCards
    keratosis follicularis spinulosa decalvans    keratosis    tick-borne encephalitis    venezuelan equine encephalitis
    non-small cell lung carcinoma    motion sickness    aids phobia    phobia
    adenoid cystic carcinoma    corneal degeneration    ectropion    systemic lupus erythematosus
    blepharitis    lupus erythematosus    encephalitis    basal cell carcinoma
    cerebral palsy    mood disorder    adenoiditis    acute pancreatitis

    1 disease from the University of Copenhagen DISEASES database for SAT1:
    Keratosis follicularis

    10/18 Novoseek disease relationships for SAT1 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehrlich ascites tumor 54.1 4 1311643 (2), 1581359 (1)
    carcinoma non-small cell lung 49.4 4 8573111 (1), 12697027 (1), 10430062 (1)
    lung carcinoma 48.2 12 8573111 (3), 2241897 (2), 12697027 (2), 1989509 (1) (see all 6)
    melanoma 36.5 14 1503400 (3), 1989509 (2), 8425191 (2), 9224814 (1) (see all 8)
    colon cancer 34.2 5 14506281 (2), 16262603 (1), 16637064 (1), 16849586 (1)
    prostate carcinoma 32.2 1 15096507 (1)
    ovarian carcinoma 31.5 4 14592538 (1), 20031193 (1), 15905201 (1)
    cancer lung 31.1 7 9717831 (1), 12827295 (1), 8411017 (1), 7559809 (1) (see all 6)
    solid tumor 24.8 4 8033120 (1), 15138709 (1), 1417826 (1), 10430062 (1)
    acute pancreatitis 21.4 1 16452302 (1)

    Human Genome Epidemiology (HuGE) Navigator: SAT1 (10 documents)

    Export disorders for SAT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SAT1 gene, integrated from 9 sources (see all 193):
    (articles sorted by number of sources associating them with SAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1). (PubMed id 1417826)1, 2, 3, 9 Xiao L.... Casero R.A. Jr. (1992)
    2. Isolation and characterization of a cDNA clone that codes for human spermidine/spermine N1-acetyltransferase. (PubMed id 1985966)1, 2, 3 Casero R.A. Jr....Pegg A.E. (1991)
    3. Differential transcription of the human spermidine/spermine N1- acetyltransferase (SSAT) gene in human lung carcinoma cells. (PubMed id 8573111)1, 2, 9 Xiao L. and Casero R.A. Jr. (1996)
    4. Structures of wild-type and mutant human spermidine/spermine N1-acetyltransferase, a potential therapeutic drug target. (PubMed id 16455797)2, 7, 9 Bewley M.C....Flanagan J.M. (2006)
    5. Mechanistic and structural analysis of human spermidine/spermine N1-acetyltransferase. (PubMed id 17516632)1, 2, 9 Hegde S.S....Blanchard J.S. (2007)
    6. Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). (PubMed id 12215835)1, 2, 9 Gimelli G.... Seri M. (2002)
    7. High specific induction of spermidine/spermine N1-acetyltransferase in a human large cell lung carcinoma. (PubMed id 2241897)1, 2, 9 Casero R.A. Jr.... Pegg A.E. (1990)
    8. Crystal structure of human spermidine/spermine N1-acetyltransferase (hSSAT): the first structure of a new sequence family of transferase homologous superfamily. (PubMed id 16544326)1, 2 Zhu Y.Q....Wang D.C. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Characterization of a full-length cDNA which codes for the human spermidine/spermine N1-acetyltransferase. (PubMed id 1652956)1, 2 Xiao L.... Casero R.A. Jr. (1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6303 HGNC: 10540 AceView: SAT Ensembl:ENSG00000130066 euGenes: HUgn6303
    ECgene: SAT1 Kegg: 6303 H-InvDB: SAT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SAT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SAT1 gene:
    Search GeneIP for patents involving SAT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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